Variant report

Variant	rs318035
Chromosome Location	chr5:41417234-41417235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41415903..41418047-chr5:41420031..41421583,2	K562	blood:
2	chr5:41415119..41417531-chr5:41419550..41421583,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13155537	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380998	1.00[JPT][hapmap]
rs1551574	1.00[JPT][hapmap]
rs161088	0.92[EUR][1000 genomes]
rs1613321	0.93[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs178466	0.97[EUR][1000 genomes]
rs1817334	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs2289786	1.00[JPT][hapmap]
rs318029	0.91[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs318030	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs318031	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs318036	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318038	1.00[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs319002	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs319004	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs319005	1.00[JPT][hapmap];0.82[YRI][hapmap]
rs319007	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs319009	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs319011	0.88[ASW][hapmap];0.91[CEU][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319012	0.88[ASW][hapmap];0.91[CEU][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453636	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs62360428	0.97[EUR][1000 genomes]
rs62360566	0.93[EUR][1000 genomes]
rs62360568	0.93[EUR][1000 genomes]
rs62360569	0.93[EUR][1000 genomes]
rs62360573	0.93[EUR][1000 genomes]
rs638701	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6451574	1.00[JPT][hapmap]
rs672658	1.00[JPT][hapmap]
rs7715750	1.00[JPT][hapmap]
rs897807	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1851387	chr5:41336050-41423631	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1024631	chr5:41341979-41427953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41409800-41418400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:41410000-41417800	Weak transcription	NHLF	lung
3	chr5:41412800-41418400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:41413000-41419000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:41413200-41419400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:41413600-41425400	Weak transcription	Ovary	ovary
7	chr5:41413800-41418200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:41414400-41419800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:41414400-41420600	Enhancers	Fetal Heart	heart
10	chr5:41414600-41417800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:41414800-41418200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:41414800-41418400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:41415200-41418200	Weak transcription	HSMM	muscle
14	chr5:41415400-41418000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:41415600-41417800	Weak transcription	NH-A	brain
16	chr5:41415600-41418000	Weak transcription	Osteobl	bone
17	chr5:41415800-41417600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:41416400-41418000	Enhancers	Left Ventricle	heart
19	chr5:41416400-41419000	Enhancers	NHDF-Ad	bronchial
20	chr5:41416600-41418400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:41416800-41417800	Weak transcription	Right Atrium	heart
22	chr5:41416800-41418400	Weak transcription	HMEC	breast
23	chr5:41416800-41418800	Weak transcription	Hela-S3	cervix
24	chr5:41417000-41417400	Weak transcription	A549	lung

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